Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage

Hb Westmead or alpha 2 122(H5)His----Gln beta 2 is one of the most common hemoglobin variants in Guangxi, a province in Southern China. The alpha 2-globin DNA sequence of a carrier for this variant was selectively amplified by the polymerase chain reaction and analyzed with the restriction enzyme Stu I. We found that this mutant globin was encoded at the alpha 2 locus and that the CAC----CAG mutation at codon 122 created a new Stu I restriction site. It is easy to detect this mutation by these methods.